Dataset statistics
| Number of variables | 46 |
|---|---|
| Number of observations | 65188 |
| Missing cells | 898429 |
| Missing cells (%) | 30.0% |
| Duplicate rows | 0 |
| Duplicate rows (%) | 0.0% |
| Total size in memory | 127.0 MiB |
| Average record size in memory | 2.0 KiB |
Variable types
| CAT | 33 |
|---|---|
| NUM | 10 |
| BOOL | 2 |
| UNSUPPORTED | 1 |
Reproduction
| Analysis started | 2020-04-30 09:59:39.439110 |
|---|---|
| Analysis finished | 2020-04-30 10:05:50.793552 |
| Version | pandas-profiling v2.5.0 |
| Command line | pandas_profiling --config_file config.yaml [YOUR_FILE.csv] |
| Download configuration | config.yaml |
REF has a high cardinality: 866 distinct values | High cardinality |
ALT has a high cardinality: 458 distinct values | High cardinality |
CLNDISDB has a high cardinality: 9234 distinct values | High cardinality |
CLNDISDBINCL has a high cardinality: 93 distinct values | High cardinality |
CLNDN has a high cardinality: 9260 distinct values | High cardinality |
CLNDNINCL has a high cardinality: 101 distinct values | High cardinality |
CLNHGVS has a high cardinality: 65188 distinct values | High cardinality |
CLNSIGINCL has a high cardinality: 137 distinct values | High cardinality |
CLNVI has a high cardinality: 27654 distinct values | High cardinality |
MC has a high cardinality: 90 distinct values | High cardinality |
Allele has a high cardinality: 374 distinct values | High cardinality |
SYMBOL has a high cardinality: 2328 distinct values | High cardinality |
Feature has a high cardinality: 2369 distinct values | High cardinality |
EXON has a high cardinality: 3264 distinct values | High cardinality |
INTRON has a high cardinality: 1929 distinct values | High cardinality |
cDNA_position has a high cardinality: 13970 distinct values | High cardinality |
CDS_position has a high cardinality: 13663 distinct values | High cardinality |
Protein_position has a high cardinality: 7339 distinct values | High cardinality |
Amino_acids has a high cardinality: 1262 distinct values | High cardinality |
Codons has a high cardinality: 2220 distinct values | High cardinality |
MOTIF_SCORE_CHANGE is highly correlated with POS and 3 other fields | High Correlation |
POS is highly correlated with MOTIF_SCORE_CHANGE | High Correlation |
STRAND is highly correlated with MOTIF_SCORE_CHANGE | High Correlation |
CADD_PHRED is highly correlated with MOTIF_SCORE_CHANGE and 1 other fields | High Correlation |
CADD_RAW is highly correlated with MOTIF_SCORE_CHANGE and 1 other fields | High Correlation |
CLNDISDBINCL has 65021 (99.7%) missing values | Missing |
CLNDNINCL has 65021 (99.7%) missing values | Missing |
CLNSIGINCL has 65021 (99.7%) missing values | Missing |
CLNVI has 37529 (57.6%) missing values | Missing |
MC has 846 (1.3%) missing values | Missing |
SSR has 65058 (99.8%) missing values | Missing |
EXON has 8893 (13.6%) missing values | Missing |
INTRON has 56385 (86.5%) missing values | Missing |
cDNA_position has 8884 (13.6%) missing values | Missing |
CDS_position has 9955 (15.3%) missing values | Missing |
Protein_position has 9955 (15.3%) missing values | Missing |
Amino_acids has 10004 (15.3%) missing values | Missing |
Codons has 10004 (15.3%) missing values | Missing |
DISTANCE has 65080 (99.8%) missing values | Missing |
BAM_EDIT has 33219 (51.0%) missing values | Missing |
SIFT has 40352 (61.9%) missing values | Missing |
PolyPhen has 40392 (62.0%) missing values | Missing |
MOTIF_NAME has 65186 (> 99.9%) missing values | Missing |
MOTIF_POS has 65186 (> 99.9%) missing values | Missing |
HIGH_INF_POS has 65186 (> 99.9%) missing values | Missing |
MOTIF_SCORE_CHANGE has 65186 (> 99.9%) missing values | Missing |
LoFtool has 4213 (6.5%) missing values | Missing |
CADD_PHRED has 1092 (1.7%) missing values | Missing |
CADD_RAW has 1092 (1.7%) missing values | Missing |
BLOSUM62 has 39595 (60.7%) missing values | Missing |
ORIGIN is highly skewed (γ1 = 68.58619745) | Skewed |
CHROM is an unsupported type, check if it needs cleaning or further analysis | Rejected |
AF_ESP has 35781 (54.9%) zeros | Zeros |
AF_EXAC has 24047 (36.9%) zeros | Zeros |
AF_TGP has 37972 (58.2%) zeros | Zeros |
| Distinct count | 63115 |
|---|---|
| Unique (%) | 96.8% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 77575938.96 |
|---|---|
| Minimum | 961 |
| Maximum | 247607973 |
| Zeros | 0 |
| Zeros (%) | 0.0% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 961 |
|---|---|
| 5-th percentile | 4876674.45 |
| Q1 | 32541793 |
| median | 57970213 |
| Q3 | 112745411.2 |
| 95-th percentile | 187122313.8 |
| Maximum | 247607973 |
| Range | 247607012 |
| Interquartile range (IQR) | 80203618.25 |
Descriptive statistics
| Standard deviation | 59740509.88 |
|---|---|
| Coefficient of variation (CV) | 0.7700907096 |
| Kurtosis | -0.1906181669 |
| Mean | 77575938.96 |
| Median Absolute Deviation (MAD) | 50014175.48 |
| Skewness | 0.8029306643 |
| Sum | 5.057020309e+12 |
| Variance | 3.568928521e+15 |
| Value | Count | Frequency (%) | |
| 89876827 | 11 | < 0.1% | |
| 179578108 | 9 | < 0.1% | |
| 73613031 | 8 | < 0.1% | |
| 92944314 | 7 | < 0.1% | |
| 103629803 | 7 | < 0.1% | |
| 17697093 | 6 | < 0.1% | |
| 51175655 | 6 | < 0.1% | |
| 25031776 | 6 | < 0.1% | |
| 11097199 | 5 | < 0.1% | |
| 98270646 | 5 | < 0.1% | |
| Other values (63105) | 65118 | 99.9% |
| Value | Count | Frequency (%) | |
| 961 | 1 | < 0.1% | |
| 1291 | 1 | < 0.1% | |
| 1393 | 1 | < 0.1% | |
| 1462 | 1 | < 0.1% | |
| 3243 | 1 | < 0.1% |
| Value | Count | Frequency (%) | |
| 247607973 | 1 | < 0.1% | |
| 247607371 | 1 | < 0.1% | |
| 247592912 | 1 | < 0.1% | |
| 247588869 | 1 | < 0.1% | |
| 247588858 | 1 | < 0.1% |
| Distinct count | 866 |
|---|---|
| Unique (%) | 1.3% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| C | |
|---|---|
| G | |
| A | |
| T | |
| CT | 126 |
| Other values (861) | 2637 |
| Value | Count | Frequency (%) | |
| C | 21798 | 33.4% | |
| G | 21361 | 32.8% | |
| A | 9845 | 15.1% | |
| T | 9421 | 14.5% | |
| CT | 126 | 0.2% | |
| GC | 113 | 0.2% | |
| TG | 105 | 0.2% | |
| AG | 104 | 0.2% | |
| AC | 103 | 0.2% | |
| GA | 91 | 0.1% | |
| Other values (856) | 2121 | 3.3% |
Length
| Max length | 127 |
|---|---|
| Mean length | 1.174863472 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 4 | 100.0% |
| Value | Count | Frequency (%) | |
| Latin | 4 | 100.0% |
| Value | Count | Frequency (%) | |
| ASCII | 4 | 100.0% |
| Distinct count | 458 |
|---|---|
| Unique (%) | 0.7% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| T | |
|---|---|
| A | |
| G | |
| C | |
| TA | 118 |
| Other values (453) | 1245 |
| Value | Count | Frequency (%) | |
| T | 20409 | 31.3% | |
| A | 20205 | 31.0% | |
| G | 11782 | 18.1% | |
| C | 11429 | 17.5% | |
| TA | 118 | 0.2% | |
| CT | 93 | 0.1% | |
| CA | 77 | 0.1% | |
| AT | 75 | 0.1% | |
| GA | 67 | 0.1% | |
| GT | 64 | 0.1% | |
| Other values (448) | 869 | 1.3% |
Length
| Max length | 100 |
|---|---|
| Mean length | 1.072359944 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 4 | 100.0% |
| Value | Count | Frequency (%) | |
| Latin | 4 | 100.0% |
| Value | Count | Frequency (%) | |
| ASCII | 4 | 100.0% |
| Distinct count | 2842 |
|---|---|
| Unique (%) | 4.4% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 0.01451052188 |
|---|---|
| Minimum | 0 |
| Maximum | 0.499 |
| Zeros | 35781 |
| Zeros (%) | 54.9% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 0 |
|---|---|
| 5-th percentile | 0 |
| Q1 | 0 |
| median | 0 |
| Q3 | 0.0012 |
| 95-th percentile | 0.075765 |
| Maximum | 0.499 |
| Range | 0.499 |
| Interquartile range (IQR) | 0.0012 |
Descriptive statistics
| Standard deviation | 0.05779541015 |
|---|---|
| Coefficient of variation (CV) | 3.983000105 |
| Kurtosis | 32.06061665 |
| Mean | 0.01451052188 |
| Median Absolute Deviation (MAD) | 0.02422527929 |
| Skewness | 5.465588287 |
| Sum | 945.9119 |
| Variance | 0.003340309435 |
| Value | Count | Frequency (%) | |
| 0 | 35781 | 54.9% | |
| 0.0001 | 3924 | 6.0% | |
| 0.0002 | 3199 | 4.9% | |
| 0.0003 | 1110 | 1.7% | |
| 0.0005 | 994 | 1.5% | |
| 0.0004 | 819 | 1.3% | |
| 0.0009 | 637 | 1.0% | |
| 0.0006 | 523 | 0.8% | |
| 0.0007 | 457 | 0.7% | |
| 0.0008 | 440 | 0.7% | |
| Other values (2832) | 17304 | 26.5% |
| Value | Count | Frequency (%) | |
| 0 | 35781 | 54.9% | |
| 0.0001 | 3924 | 6.0% | |
| 0.0002 | 3199 | 4.9% | |
| 0.0003 | 1110 | 1.7% | |
| 0.0004 | 819 | 1.3% |
| Value | Count | Frequency (%) | |
| 0.499 | 1 | < 0.1% | |
| 0.4989 | 1 | < 0.1% | |
| 0.4986 | 1 | < 0.1% | |
| 0.4985 | 1 | < 0.1% | |
| 0.4979 | 1 | < 0.1% |
| Distinct count | 6667 |
|---|---|
| Unique (%) | 10.2% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 0.0144921754 |
|---|---|
| Minimum | 0 |
| Maximum | 0.49989 |
| Zeros | 24047 |
| Zeros (%) | 36.9% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 0 |
|---|---|
| 5-th percentile | 0 |
| Q1 | 0 |
| median | 4e-05 |
| Q3 | 0.00123 |
| 95-th percentile | 0.0768395 |
| Maximum | 0.49989 |
| Range | 0.49989 |
| Interquartile range (IQR) | 0.00123 |
Descriptive statistics
| Standard deviation | 0.05954209632 |
|---|---|
| Coefficient of variation (CV) | 4.108568568 |
| Kurtosis | 31.33022126 |
| Mean | 0.0144921754 |
| Median Absolute Deviation (MAD) | 0.02460664223 |
| Skewness | 5.434358612 |
| Sum | 944.71593 |
| Variance | 0.003545261235 |
| Value | Count | Frequency (%) | |
| 0 | 24047 | 36.9% | |
| 1e-05 | 3263 | 5.0% | |
| 3e-05 | 2321 | 3.6% | |
| 2e-05 | 2037 | 3.1% | |
| 4e-05 | 1013 | 1.6% | |
| 5e-05 | 881 | 1.4% | |
| 7e-05 | 841 | 1.3% | |
| 6e-05 | 665 | 1.0% | |
| 8e-05 | 663 | 1.0% | |
| 0.00012 | 492 | 0.8% | |
| Other values (6657) | 28965 | 44.4% |
| Value | Count | Frequency (%) | |
| 0 | 24047 | 36.9% | |
| 1e-05 | 3263 | 5.0% | |
| 2e-05 | 2037 | 3.1% | |
| 3e-05 | 2321 | 3.6% | |
| 4e-05 | 1013 | 1.6% |
| Value | Count | Frequency (%) | |
| 0.49989 | 1 | < 0.1% | |
| 0.49974 | 1 | < 0.1% | |
| 0.49967 | 1 | < 0.1% | |
| 0.49962 | 1 | < 0.1% | |
| 0.4996 | 1 | < 0.1% |
| Distinct count | 2087 |
|---|---|
| Unique (%) | 3.2% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 0.01526349635 |
|---|---|
| Minimum | 0 |
| Maximum | 0.4998 |
| Zeros | 37972 |
| Zeros (%) | 58.2% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 0 |
|---|---|
| 5-th percentile | 0 |
| Q1 | 0 |
| median | 0 |
| Q3 | 0.0016 |
| 95-th percentile | 0.0837 |
| Maximum | 0.4998 |
| Range | 0.4998 |
| Interquartile range (IQR) | 0.0016 |
Descriptive statistics
| Standard deviation | 0.05952740749 |
|---|---|
| Coefficient of variation (CV) | 3.899985045 |
| Kurtosis | 30.43211765 |
| Mean | 0.01526349635 |
| Median Absolute Deviation (MAD) | 0.02538392379 |
| Skewness | 5.328800456 |
| Sum | 994.9968 |
| Variance | 0.003543512242 |
| Value | Count | Frequency (%) | |
| 0 | 37972 | 58.2% | |
| 0.0002 | 3786 | 5.8% | |
| 0.0004 | 2073 | 3.2% | |
| 0.0006 | 1352 | 2.1% | |
| 0.0008 | 1059 | 1.6% | |
| 0.001 | 872 | 1.3% | |
| 0.0012 | 679 | 1.0% | |
| 0.0014 | 609 | 0.9% | |
| 0.0016 | 584 | 0.9% | |
| 0.0018 | 472 | 0.7% | |
| Other values (2077) | 15730 | 24.1% |
| Value | Count | Frequency (%) | |
| 0 | 37972 | 58.2% | |
| 0.0002 | 3786 | 5.8% | |
| 0.0003 | 129 | 0.2% | |
| 0.0004 | 2073 | 3.2% | |
| 0.0005 | 85 | 0.1% |
| Value | Count | Frequency (%) | |
| 0.4998 | 1 | < 0.1% | |
| 0.4994 | 1 | < 0.1% | |
| 0.499 | 1 | < 0.1% | |
| 0.4984 | 1 | < 0.1% | |
| 0.4976 | 1 | < 0.1% |
| Distinct count | 9234 |
|---|---|
| Unique (%) | 14.2% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| MedGen:CN169374 | 5344 |
|---|---|
| MedGen:C0027672,SNOMED_CT:699346009|MedGen:CN169374 | 1724 |
| MedGen:CN169374|MedGen:CN517202 | 1398 |
| MedGen:C0027672,SNOMED_CT:699346009 | 1139 |
| MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 | 913 |
| Other values (9229) |
| Value | Count | Frequency (%) | |
| MedGen:CN169374 | 5344 | 8.2% | |
| MedGen:C0027672,SNOMED_CT:699346009|MedGen:CN169374 | 1724 | 2.6% | |
| MedGen:CN169374|MedGen:CN517202 | 1398 | 2.1% | |
| MedGen:C0027672,SNOMED_CT:699346009 | 1139 | 1.7% | |
| MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 | 913 | 1.4% | |
| MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000 | 732 | 1.1% | |
| MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED_CT:68504005|MedGen:C0027672,SNOMED_CT:699346009 | 608 | 0.9% | |
| MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006 | 561 | 0.9% | |
| Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374 | 526 | 0.8% | |
| MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED_CT:92824003 | 513 | 0.8% | |
| Other values (9224) | 51730 | 79.4% |
Length
| Max length | 2417 |
|---|---|
| Mean length | 87.45106461 |
| Min length | 15 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 15 | 34.1% | |
| Lowercase_Letter | 14 | 31.8% | |
| Decimal_Number | 10 | 22.7% | |
| Other_Punctuation | 3 | 6.8% | |
| Connector_Punctuation | 1 | 2.3% | |
| Math_Symbol | 1 | 2.3% |
| Value | Count | Frequency (%) | |
| Latin | 29 | 65.9% | |
| Common | 15 | 34.1% |
| Value | Count | Frequency (%) | |
| ASCII | 44 | 100.0% |
| Distinct count | 93 |
|---|---|
| Unique (%) | 55.7% |
| Missing | 65021 |
| Missing (%) | 99.7% |
| Memory size | 509.4 KiB |
| MedGen:CN169374 | 11 |
|---|---|
| . | 11 |
| MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED_CT:8808004 | 8 |
| MeSH:C535804,MedGen:C1855465,OMIM:248200 | 6 |
| MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000 | 6 |
| Other values (88) |
| Value | Count | Frequency (%) | |
| MedGen:CN169374 | 11 | < 0.1% | |
| . | 11 | < 0.1% | |
| MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED_CT:8808004 | 8 | < 0.1% | |
| MeSH:C535804,MedGen:C1855465,OMIM:248200 | 6 | < 0.1% | |
| MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000 | 6 | < 0.1% | |
| MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED_CT:12579009 | 4 | < 0.1% | |
| MedGen:C0007959,Orphanet:ORPHA166,SNOMED_CT:50548001 | 4 | < 0.1% | |
| MedGen:CN029323,OMIM:601144 | 3 | < 0.1% | |
| MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008 | 3 | < 0.1% | |
| MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268 | 3 | < 0.1% | |
| Other values (83) | 108 | 0.2% | |
| (Missing) | 65021 | 99.7% |
Length
| Max length | 227 |
|---|---|
| Mean length | 3.126618396 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 14 | 32.6% | |
| Uppercase_Letter | 14 | 32.6% | |
| Decimal_Number | 10 | 23.3% | |
| Other_Punctuation | 3 | 7.0% | |
| Math_Symbol | 1 | 2.3% | |
| Connector_Punctuation | 1 | 2.3% |
| Value | Count | Frequency (%) | |
| Latin | 28 | 65.1% | |
| Common | 15 | 34.9% |
| Value | Count | Frequency (%) | |
| ASCII | 43 | 100.0% |
| Distinct count | 9260 |
|---|---|
| Unique (%) | 14.2% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| not_specified | 5344 |
|---|---|
| Hereditary_cancer-predisposing_syndrome|not_specified | 1724 |
| not_specified|not_provided | 1398 |
| Hereditary_cancer-predisposing_syndrome | 1139 |
| Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified | 913 |
| Other values (9255) |
| Value | Count | Frequency (%) | |
| not_specified | 5344 | 8.2% | |
| Hereditary_cancer-predisposing_syndrome|not_specified | 1724 | 2.6% | |
| not_specified|not_provided | 1398 | 2.1% | |
| Hereditary_cancer-predisposing_syndrome | 1139 | 1.7% | |
| Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified | 913 | 1.4% | |
| Familial_hypercholesterolemia | 732 | 1.1% | |
| Ataxia-telangiectasia_syndrome|Hereditary_cancer-predisposing_syndrome | 608 | 0.9% | |
| Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast | 561 | 0.9% | |
| Ciliary_dyskinesia|not_specified | 526 | 0.8% | |
| Hereditary_cancer-predisposing_syndrome|Neurofibromatosis,_type_1 | 513 | 0.8% | |
| Other values (9250) | 51730 | 79.4% |
Length
| Max length | 996 |
|---|---|
| Mean length | 70.96818433 |
| Min length | 9 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 29 | 37.2% | |
| Uppercase_Letter | 26 | 33.3% | |
| Decimal_Number | 10 | 12.8% | |
| Other_Punctuation | 6 | 7.7% | |
| Math_Symbol | 2 | 2.6% | |
| Modifier_Symbol | 1 | 1.3% | |
| Open_Punctuation | 1 | 1.3% | |
| Close_Punctuation | 1 | 1.3% | |
| Dash_Punctuation | 1 | 1.3% | |
| Connector_Punctuation | 1 | 1.3% |
| Value | Count | Frequency (%) | |
| Latin | 55 | 70.5% | |
| Common | 23 | 29.5% |
| Value | Count | Frequency (%) | |
| ASCII | 75 | 100.0% |
| Distinct count | 101 |
|---|---|
| Unique (%) | 60.5% |
| Missing | 65021 |
| Missing (%) | 99.7% |
| Memory size | 509.4 KiB |
| not_specified | 11 |
|---|---|
| Biotinidase_deficiency | 8 |
| Stargardt_disease_1 | 6 |
| Familial_hypercholesterolemia | 6 |
| Charcot-Marie-Tooth_disease | 4 |
| Other values (96) |
| Value | Count | Frequency (%) | |
| not_specified | 11 | < 0.1% | |
| Biotinidase_deficiency | 8 | < 0.1% | |
| Stargardt_disease_1 | 6 | < 0.1% | |
| Familial_hypercholesterolemia | 6 | < 0.1% | |
| Charcot-Marie-Tooth_disease | 4 | < 0.1% | |
| Familial_Mediterranean_fever | 4 | < 0.1% | |
| Merosin_deficient_congenital_muscular_dystrophy | 3 | < 0.1% | |
| Limb-girdle_muscular_dystrophy,_type_2B | 3 | < 0.1% | |
| Brugada_syndrome_1 | 3 | < 0.1% | |
| Wilson_disease | 3 | < 0.1% | |
| Other values (91) | 116 | 0.2% | |
| (Missing) | 65021 | 99.7% |
Length
| Max length | 180 |
|---|---|
| Mean length | 3.087301344 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 26 | 38.2% | |
| Uppercase_Letter | 25 | 36.8% | |
| Decimal_Number | 10 | 14.7% | |
| Other_Punctuation | 2 | 2.9% | |
| Math_Symbol | 1 | 1.5% | |
| Open_Punctuation | 1 | 1.5% | |
| Close_Punctuation | 1 | 1.5% | |
| Dash_Punctuation | 1 | 1.5% | |
| Connector_Punctuation | 1 | 1.5% |
| Value | Count | Frequency (%) | |
| Latin | 51 | 75.0% | |
| Common | 17 | 25.0% |
| Value | Count | Frequency (%) | |
| ASCII | 68 | 100.0% |
| Distinct count | 65188 |
|---|---|
| Unique (%) | 100.0% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| NC_000005.9:g.112155019C>T | 1 |
|---|---|
| NC_000017.10:g.41243899A>G | 1 |
| NC_000013.10:g.32937450C>T | 1 |
| NC_000011.9:g.17542554C>A | 1 |
| NC_000017.10:g.41215378G>A | 1 |
| Other values (65183) |
| Value | Count | Frequency (%) | |
| NC_000005.9:g.112155019C>T | 1 | < 0.1% | |
| NC_000017.10:g.41243899A>G | 1 | < 0.1% | |
| NC_000013.10:g.32937450C>T | 1 | < 0.1% | |
| NC_000011.9:g.17542554C>A | 1 | < 0.1% | |
| NC_000017.10:g.41215378G>A | 1 | < 0.1% | |
| NC_000017.10:g.39913781G>A | 1 | < 0.1% | |
| NC_000011.9:g.108158412G>A | 1 | < 0.1% | |
| NC_000016.9:g.57931805C>T | 1 | < 0.1% | |
| NC_000001.10:g.45799001C>T | 1 | < 0.1% | |
| NC_000017.10:g.59934436G>C | 1 | < 0.1% | |
| Other values (65178) | 65178 | > 99.9% |
Length
| Max length | 102 |
|---|---|
| Mean length | 26.42133522 |
| Min length | 20 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 11 | 34.4% | |
| Decimal_Number | 10 | 31.2% | |
| Uppercase_Letter | 5 | 15.6% | |
| Other_Punctuation | 2 | 6.2% | |
| Math_Symbol | 1 | 3.1% | |
| Open_Punctuation | 1 | 3.1% | |
| Close_Punctuation | 1 | 3.1% | |
| Connector_Punctuation | 1 | 3.1% |
| Value | Count | Frequency (%) | |
| Latin | 16 | 50.0% | |
| Common | 16 | 50.0% |
| Value | Count | Frequency (%) | |
| ASCII | 32 | 100.0% |
| Distinct count | 137 |
|---|---|
| Unique (%) | 82.0% |
| Missing | 65021 |
| Missing (%) | 99.7% |
| Memory size | 509.4 KiB |
| 424754:Likely_pathogenic | 2 |
|---|---|
| 4299:Pathogenic | 2 |
| 495755:Pathogenic | 2 |
| 236068:Pathogenic | 2 |
| 424791:Likely_pathogenic | 2 |
| Other values (132) |
| Value | Count | Frequency (%) | |
| 424754:Likely_pathogenic | 2 | < 0.1% | |
| 4299:Pathogenic | 2 | < 0.1% | |
| 495755:Pathogenic | 2 | < 0.1% | |
| 236068:Pathogenic | 2 | < 0.1% | |
| 424791:Likely_pathogenic | 2 | < 0.1% | |
| 487487:Pathogenic | 2 | < 0.1% | |
| 12182:Pathogenic | 2 | < 0.1% | |
| 440849:Pathogenic | 2 | < 0.1% | |
| 2067:risk_factor | 2 | < 0.1% | |
| 219354:Pathogenic | 2 | < 0.1% | |
| Other values (127) | 147 | 0.2% | |
| (Missing) | 65021 | 99.7% |
Length
| Max length | 128 |
|---|---|
| Mean length | 3.04849052 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 17 | 47.2% | |
| Decimal_Number | 10 | 27.8% | |
| Uppercase_Letter | 5 | 13.9% | |
| Other_Punctuation | 2 | 5.6% | |
| Math_Symbol | 1 | 2.8% | |
| Connector_Punctuation | 1 | 2.8% |
| Value | Count | Frequency (%) | |
| Latin | 22 | 61.1% | |
| Common | 14 | 38.9% |
| Value | Count | Frequency (%) | |
| ASCII | 36 | 100.0% |
CLNVC
Categorical
| Distinct count | 7 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| single_nucleotide_variant | |
|---|---|
| Deletion | 2509 |
| Duplication | 1034 |
| Indel | 247 |
| Insertion | 95 |
| Other values (2) | 22 |
| Value | Count | Frequency (%) | |
| single_nucleotide_variant | 61281 | 94.0% | |
| Deletion | 2509 | 3.8% | |
| Duplication | 1034 | 1.6% | |
| Indel | 247 | 0.4% | |
| Insertion | 95 | 0.1% | |
| Inversion | 17 | < 0.1% | |
| Microsatellite | 5 | < 0.1% |
Length
| Max length | 25 |
|---|---|
| Mean length | 24.01951279 |
| Min length | 5 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 15 | 78.9% | |
| Uppercase_Letter | 3 | 15.8% | |
| Connector_Punctuation | 1 | 5.3% |
| Value | Count | Frequency (%) | |
| Latin | 18 | 94.7% | |
| Common | 1 | 5.3% |
| Value | Count | Frequency (%) | |
| ASCII | 19 | 100.0% |
| Distinct count | 27654 |
|---|---|
| Unique (%) | > 99.9% |
| Missing | 37529 |
| Missing (%) | 57.6% |
| Memory size | 509.4 KiB |
| OMIM_Allelic_Variant:609332.0008 | 2 |
|---|---|
| UniProtKB_(protein):Q06124#VAR_027184 | 2 |
| UniProtKB_(protein):Q06124#VAR_015610 | 2 |
| UniProtKB_(protein):P38398#VAR_020691 | 2 |
| UniProtKB_(protein):P38398#VAR_007765 | 2 |
| Other values (27649) |
| Value | Count | Frequency (%) | |
| OMIM_Allelic_Variant:609332.0008 | 2 | < 0.1% | |
| UniProtKB_(protein):Q06124#VAR_027184 | 2 | < 0.1% | |
| UniProtKB_(protein):Q06124#VAR_015610 | 2 | < 0.1% | |
| UniProtKB_(protein):P38398#VAR_020691 | 2 | < 0.1% | |
| UniProtKB_(protein):P38398#VAR_007765 | 2 | < 0.1% | |
| Illumina_Clinical_Services_Laboratory,Illumina:206764 | 1 | < 0.1% | |
| ARUP_Laboratories,_Molecular_Genetics_and_Genomics:103098|Illumina_Clinical_Services_Laboratory,Illumina:126522 | 1 | < 0.1% | |
| Illumina_Clinical_Services_Laboratory,Illumina:651733 | 1 | < 0.1% | |
| UniProtKB_(protein):P38398#VAR_070477 | 1 | < 0.1% | |
| OMIM_Allelic_Variant:607585.0028|OMIM_Allelic_Variant:607585.0029 | 1 | < 0.1% | |
| Other values (27644) | 27644 | 42.4% | |
| (Missing) | 37529 | 57.6% |
Length
| Max length | 585 |
|---|---|
| Mean length | 27.46433393 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 31 | 37.8% | |
| Uppercase_Letter | 26 | 31.7% | |
| Decimal_Number | 10 | 12.2% | |
| Other_Punctuation | 8 | 9.8% | |
| Math_Symbol | 3 | 3.7% | |
| Open_Punctuation | 1 | 1.2% | |
| Close_Punctuation | 1 | 1.2% | |
| Dash_Punctuation | 1 | 1.2% | |
| Connector_Punctuation | 1 | 1.2% |
| Value | Count | Frequency (%) | |
| Latin | 57 | 69.5% | |
| Common | 25 | 30.5% |
| Value | Count | Frequency (%) | |
| ASCII | 77 | 100.0% |
| Distinct count | 90 |
|---|---|
| Unique (%) | 0.1% |
| Missing | 846 |
| Missing (%) | 1.3% |
| Memory size | 509.4 KiB |
| SO:0001583|missense_variant | |
|---|---|
| SO:0001819|synonymous_variant | |
| SO:0001627|intron_variant | |
| SO:0001583|missense_variant,SO:0001627|intron_variant | 2803 |
| SO:0001589|frameshift_variant | 1622 |
| Other values (85) |
| Value | Count | Frequency (%) | |
| SO:0001583|missense_variant | 28457 | 43.7% | |
| SO:0001819|synonymous_variant | 16549 | 25.4% | |
| SO:0001627|intron_variant | 7534 | 11.6% | |
| SO:0001583|missense_variant,SO:0001627|intron_variant | 2803 | 4.3% | |
| SO:0001589|frameshift_variant | 1622 | 2.5% | |
| SO:0001587|nonsense | 1573 | 2.4% | |
| SO:0001627|intron_variant,SO:0001819|synonymous_variant | 1148 | 1.8% | |
| SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant | 724 | 1.1% | |
| SO:0001623|5_prime_UTR_variant | 516 | 0.8% | |
| SO:0001575|splice_donor_variant | 504 | 0.8% | |
| Other values (80) | 2912 | 4.5% | |
| (Missing) | 846 | 1.3% |
Length
| Max length | 121 |
|---|---|
| Mean length | 30.09966558 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 19 | 47.5% | |
| Decimal_Number | 10 | 25.0% | |
| Uppercase_Letter | 7 | 17.5% | |
| Other_Punctuation | 2 | 5.0% | |
| Connector_Punctuation | 1 | 2.5% | |
| Math_Symbol | 1 | 2.5% |
| Value | Count | Frequency (%) | |
| Latin | 26 | 65.0% | |
| Common | 14 | 35.0% |
| Value | Count | Frequency (%) | |
| ASCII | 40 | 100.0% |
| Distinct count | 31 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 1.342486347 |
|---|---|
| Minimum | 0 |
| Maximum | 513 |
| Zeros | 14 |
| Zeros (%) | < 0.1% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 0 |
|---|---|
| 5-th percentile | 1 |
| Q1 | 1 |
| median | 1 |
| Q3 | 1 |
| 95-th percentile | 1 |
| Maximum | 513 |
| Range | 513 |
| Interquartile range (IQR) | 0 |
Descriptive statistics
| Standard deviation | 5.688771576 |
|---|---|
| Coefficient of variation (CV) | 4.237489333 |
| Kurtosis | 6034.475043 |
| Mean | 1.342486347 |
| Median Absolute Deviation (MAD) | 0.6724357811 |
| Skewness | 68.58619745 |
| Sum | 87514 |
| Variance | 32.36212205 |
| Value | Count | Frequency (%) | |
| 1 | 63940 | 98.1% | |
| 33 | 330 | 0.5% | |
| 3 | 270 | 0.4% | |
| 5 | 200 | 0.3% | |
| 17 | 189 | 0.3% | |
| 9 | 144 | 0.2% | |
| 25 | 21 | < 0.1% | |
| 49 | 16 | < 0.1% | |
| 0 | 14 | < 0.1% | |
| 32 | 11 | < 0.1% | |
| Other values (21) | 53 | 0.1% |
| Value | Count | Frequency (%) | |
| 0 | 14 | < 0.1% | |
| 1 | 63940 | 98.1% | |
| 2 | 5 | < 0.1% | |
| 3 | 270 | 0.4% | |
| 4 | 3 | < 0.1% |
| Value | Count | Frequency (%) | |
| 513 | 6 | < 0.1% | |
| 129 | 1 | < 0.1% | |
| 85 | 1 | < 0.1% | |
| 69 | 1 | < 0.1% | |
| 65 | 6 | < 0.1% |
| Distinct count | 2 |
|---|---|
| Unique (%) | 1.5% |
| Missing | 65058 |
| Missing (%) | 99.8% |
| Memory size | 509.4 KiB |
| 1 | |
|---|---|
| 16 | 11 |
| Value | Count | Frequency (%) | |
| 1 | 119 | 0.2% | |
| 16 | 11 | < 0.1% | |
| (Missing) | 65058 | 99.8% |
Length
| Max length | 4 |
|---|---|
| Mean length | 3.000168743 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 3 | 50.0% | |
| Lowercase_Letter | 2 | 33.3% | |
| Other_Punctuation | 1 | 16.7% |
| Value | Count | Frequency (%) | |
| Common | 4 | 66.7% | |
| Latin | 2 | 33.3% |
| Value | Count | Frequency (%) | |
| ASCII | 6 | 100.0% |
CLASS
Boolean
| Distinct count | 2 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| 0 | |
|---|---|
| 1 |
| Value | Count | Frequency (%) | |
| 0 | 48754 | 74.8% | |
| 1 | 16434 | 25.2% |
| Distinct count | 374 |
|---|---|
| Unique (%) | 0.6% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| T | |
|---|---|
| A | |
| G | |
| C | |
| - | 2510 |
| Other values (369) | 729 |
| Value | Count | Frequency (%) | |
| T | 19991 | 30.7% | |
| A | 19800 | 30.4% | |
| G | 11397 | 17.5% | |
| C | 10761 | 16.5% | |
| - | 2510 | 3.9% | |
| AA | 46 | 0.1% | |
| TT | 38 | 0.1% | |
| AT | 20 | < 0.1% | |
| CA | 19 | < 0.1% | |
| CT | 17 | < 0.1% | |
| Other values (364) | 589 | 0.9% |
Length
| Max length | 99 |
|---|---|
| Mean length | 1.054979444 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 4 | 80.0% | |
| Dash_Punctuation | 1 | 20.0% |
| Value | Count | Frequency (%) | |
| Latin | 4 | 80.0% | |
| Common | 1 | 20.0% |
| Value | Count | Frequency (%) | |
| ASCII | 5 | 100.0% |
Consequence
Categorical
| Distinct count | 48 |
|---|---|
| Unique (%) | 0.1% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| missense_variant | |
|---|---|
| synonymous_variant | |
| intron_variant | 4403 |
| splice_region_variant&intron_variant | 3393 |
| frameshift_variant | 1774 |
| Other values (43) |
| Value | Count | Frequency (%) | |
| missense_variant | 31444 | 48.2% | |
| synonymous_variant | 17668 | 27.1% | |
| intron_variant | 4403 | 6.8% | |
| splice_region_variant&intron_variant | 3393 | 5.2% | |
| frameshift_variant | 1774 | 2.7% | |
| stop_gained | 1702 | 2.6% | |
| missense_variant&splice_region_variant | 964 | 1.5% | |
| 5_prime_UTR_variant | 626 | 1.0% | |
| inframe_deletion | 583 | 0.9% | |
| splice_region_variant&synonymous_variant | 552 | 0.8% | |
| Other values (38) | 2079 | 3.2% |
Length
| Max length | 62 |
|---|---|
| Mean length | 18.12206234 |
| Min length | 9 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 22 | 73.3% | |
| Uppercase_Letter | 4 | 13.3% | |
| Decimal_Number | 2 | 6.7% | |
| Other_Punctuation | 1 | 3.3% | |
| Connector_Punctuation | 1 | 3.3% |
| Value | Count | Frequency (%) | |
| Latin | 26 | 86.7% | |
| Common | 4 | 13.3% |
| Value | Count | Frequency (%) | |
| ASCII | 30 | 100.0% |
IMPACT
Categorical
| Distinct count | 4 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| MODERATE | |
|---|---|
| LOW | |
| MODIFIER | 5582 |
| HIGH | 4752 |
| Value | Count | Frequency (%) | |
| MODERATE | 33212 | 50.9% | |
| LOW | 21642 | 33.2% | |
| MODIFIER | 5582 | 8.6% | |
| HIGH | 4752 | 7.3% |
Length
| Max length | 8 |
|---|---|
| Mean length | 6.048444499 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 13 | 100.0% |
| Value | Count | Frequency (%) | |
| Latin | 13 | 100.0% |
| Value | Count | Frequency (%) | |
| ASCII | 13 | 100.0% |
| Distinct count | 2328 |
|---|---|
| Unique (%) | 3.6% |
| Missing | 16 |
| Missing (%) | < 0.1% |
| Memory size | 509.4 KiB |
| TTN | 2765 |
|---|---|
| BRCA2 | 1934 |
| ATM | 1909 |
| APC | 1228 |
| BRCA1 | 1075 |
| Other values (2323) |
| Value | Count | Frequency (%) | |
| TTN | 2765 | 4.2% | |
| BRCA2 | 1934 | 3.0% | |
| ATM | 1909 | 2.9% | |
| APC | 1228 | 1.9% | |
| BRCA1 | 1075 | 1.6% | |
| MSH6 | 1048 | 1.6% | |
| LDLR | 905 | 1.4% | |
| PALB2 | 794 | 1.2% | |
| NF1 | 732 | 1.1% | |
| TSC2 | 640 | 1.0% | |
| Other values (2318) | 52142 | 80.0% |
Length
| Max length | 12 |
|---|---|
| Mean length | 4.607765233 |
| Min length | 2 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 26 | 61.9% | |
| Decimal_Number | 10 | 23.8% | |
| Lowercase_Letter | 5 | 11.9% | |
| Dash_Punctuation | 1 | 2.4% |
| Value | Count | Frequency (%) | |
| Latin | 31 | 73.8% | |
| Common | 11 | 26.2% |
| Value | Count | Frequency (%) | |
| ASCII | 42 | 100.0% |
Feature_type
Categorical
| Distinct count | 2 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 14 |
| Missing (%) | < 0.1% |
| Memory size | 509.4 KiB |
| Transcript | |
|---|---|
| MotifFeature | 2 |
| Value | Count | Frequency (%) | |
| Transcript | 65172 | > 99.9% | |
| MotifFeature | 2 | < 0.1% | |
| (Missing) | 14 | < 0.1% |
Length
| Max length | 12 |
|---|---|
| Mean length | 9.998558017 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 12 | 80.0% | |
| Uppercase_Letter | 3 | 20.0% |
| Value | Count | Frequency (%) | |
| Latin | 15 | 100.0% |
| Value | Count | Frequency (%) | |
| ASCII | 15 | 100.0% |
| Distinct count | 2369 |
|---|---|
| Unique (%) | 3.6% |
| Missing | 14 |
| Missing (%) | < 0.1% |
| Memory size | 509.4 KiB |
| NM_001267550.1 | 2765 |
|---|---|
| NM_000059.3 | 1934 |
| NM_000051.3 | 1909 |
| XM_005271975.1 | 1228 |
| NM_007300.3 | 1075 |
| Other values (2364) |
| Value | Count | Frequency (%) | |
| NM_001267550.1 | 2765 | 4.2% | |
| NM_000059.3 | 1934 | 3.0% | |
| NM_000051.3 | 1909 | 2.9% | |
| XM_005271975.1 | 1228 | 1.9% | |
| NM_007300.3 | 1075 | 1.6% | |
| NM_000179.2 | 1048 | 1.6% | |
| NM_000527.4 | 905 | 1.4% | |
| NM_024675.3 | 794 | 1.2% | |
| XM_005257983.1 | 732 | 1.1% | |
| XM_005255527.1 | 640 | 1.0% | |
| Other values (2359) | 52144 | 80.0% |
Length
| Max length | 17 |
|---|---|
| Mean length | 12.22257164 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 10 | 43.5% | |
| Lowercase_Letter | 6 | 26.1% | |
| Uppercase_Letter | 5 | 21.7% | |
| Other_Punctuation | 1 | 4.3% | |
| Connector_Punctuation | 1 | 4.3% |
| Value | Count | Frequency (%) | |
| Common | 12 | 52.2% | |
| Latin | 11 | 47.8% |
| Value | Count | Frequency (%) | |
| ASCII | 23 | 100.0% |
BIOTYPE
Categorical
| Distinct count | 2 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 16 |
| Missing (%) | < 0.1% |
| Memory size | 509.4 KiB |
| protein_coding | |
|---|---|
| misc_RNA | 14 |
| Value | Count | Frequency (%) | |
| protein_coding | 65158 | > 99.9% | |
| misc_RNA | 14 | < 0.1% | |
| (Missing) | 16 | < 0.1% |
Length
| Max length | 14 |
|---|---|
| Mean length | 13.99601154 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 13 | 76.5% | |
| Uppercase_Letter | 3 | 17.6% | |
| Connector_Punctuation | 1 | 5.9% |
| Value | Count | Frequency (%) | |
| Latin | 16 | 94.1% | |
| Common | 1 | 5.9% |
| Value | Count | Frequency (%) | |
| ASCII | 17 | 100.0% |
| Distinct count | 3264 |
|---|---|
| Unique (%) | 5.8% |
| Missing | 8893 |
| Missing (%) | 13.6% |
| Memory size | 509.4 KiB |
| 16/16 | 1129 |
|---|---|
| 11/27 | 807 |
| 4/10 | 752 |
| 3/3 | 581 |
| 2/2 | 570 |
| Other values (3259) |
| Value | Count | Frequency (%) | |
| 16/16 | 1129 | 1.7% | |
| 11/27 | 807 | 1.2% | |
| 4/10 | 752 | 1.2% | |
| 3/3 | 581 | 0.9% | |
| 2/2 | 570 | 0.9% | |
| 10/24 | 525 | 0.8% | |
| 4/13 | 368 | 0.6% | |
| 326/363 | 368 | 0.6% | |
| 4/4 | 354 | 0.5% | |
| 4/11 | 342 | 0.5% | |
| Other values (3254) | 50499 | 77.5% | |
| (Missing) | 8893 | 13.6% |
Length
| Max length | 7 |
|---|---|
| Mean length | 4.305700436 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 10 | 76.9% | |
| Lowercase_Letter | 2 | 15.4% | |
| Other_Punctuation | 1 | 7.7% |
| Value | Count | Frequency (%) | |
| Common | 11 | 84.6% | |
| Latin | 2 | 15.4% |
| Value | Count | Frequency (%) | |
| ASCII | 13 | 100.0% |
| Distinct count | 1929 |
|---|---|
| Unique (%) | 21.9% |
| Missing | 56385 |
| Missing (%) | 86.5% |
| Memory size | 509.4 KiB |
| 47/362 | 93 |
|---|---|
| 2/9 | 68 |
| 3/9 | 65 |
| 4/9 | 54 |
| 5/9 | 54 |
| Other values (1924) |
| Value | Count | Frequency (%) | |
| 47/362 | 93 | 0.1% | |
| 2/9 | 68 | 0.1% | |
| 3/9 | 65 | 0.1% | |
| 4/9 | 54 | 0.1% | |
| 5/9 | 54 | 0.1% | |
| 5/15 | 53 | 0.1% | |
| 8/9 | 51 | 0.1% | |
| 9/9 | 51 | 0.1% | |
| 7/9 | 48 | 0.1% | |
| 10/15 | 47 | 0.1% | |
| Other values (1919) | 8219 | 12.6% | |
| (Missing) | 56385 | 86.5% |
Length
| Max length | 7 |
|---|---|
| Mean length | 3.198288028 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 10 | 76.9% | |
| Lowercase_Letter | 2 | 15.4% | |
| Other_Punctuation | 1 | 7.7% |
| Value | Count | Frequency (%) | |
| Common | 11 | 84.6% | |
| Latin | 2 | 15.4% |
| Value | Count | Frequency (%) | |
| ASCII | 13 | 100.0% |
| Distinct count | 13970 |
|---|---|
| Unique (%) | 24.8% |
| Missing | 8884 |
| Missing (%) | 13.6% |
| Memory size | 509.4 KiB |
| 852 | 31 |
|---|---|
| 878 | 30 |
| 729 | 29 |
| 433 | 29 |
| 452 | 29 |
| Other values (13965) |
| Value | Count | Frequency (%) | |
| 852 | 31 | < 0.1% | |
| 878 | 30 | < 0.1% | |
| 729 | 29 | < 0.1% | |
| 433 | 29 | < 0.1% | |
| 452 | 29 | < 0.1% | |
| 789 | 29 | < 0.1% | |
| 1201 | 29 | < 0.1% | |
| 432 | 28 | < 0.1% | |
| 566 | 28 | < 0.1% | |
| 1253 | 28 | < 0.1% | |
| Other values (13960) | 56014 | 85.9% | |
| (Missing) | 8884 | 13.6% |
Length
| Max length | 13 |
|---|---|
| Mean length | 3.839924526 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 10 | 71.4% | |
| Lowercase_Letter | 2 | 14.3% | |
| Other_Punctuation | 1 | 7.1% | |
| Dash_Punctuation | 1 | 7.1% |
| Value | Count | Frequency (%) | |
| Common | 12 | 85.7% | |
| Latin | 2 | 14.3% |
| Value | Count | Frequency (%) | |
| ASCII | 14 | 100.0% |
| Distinct count | 13663 |
|---|---|
| Unique (%) | 24.7% |
| Missing | 9955 |
| Missing (%) | 15.3% |
| Memory size | 509.4 KiB |
| 1 | 36 |
|---|---|
| 696 | 35 |
| 465 | 32 |
| 379 | 32 |
| 402 | 31 |
| Other values (13658) |
| Value | Count | Frequency (%) | |
| 1 | 36 | 0.1% | |
| 696 | 35 | 0.1% | |
| 465 | 32 | < 0.1% | |
| 379 | 32 | < 0.1% | |
| 402 | 31 | < 0.1% | |
| 207 | 30 | < 0.1% | |
| 456 | 30 | < 0.1% | |
| 769 | 30 | < 0.1% | |
| 606 | 30 | < 0.1% | |
| 27 | 30 | < 0.1% | |
| Other values (13653) | 54917 | 84.2% | |
| (Missing) | 9955 | 15.3% |
Length
| Max length | 13 |
|---|---|
| Mean length | 3.734935878 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 10 | 71.4% | |
| Lowercase_Letter | 2 | 14.3% | |
| Other_Punctuation | 1 | 7.1% | |
| Dash_Punctuation | 1 | 7.1% |
| Value | Count | Frequency (%) | |
| Common | 12 | 85.7% | |
| Latin | 2 | 14.3% |
| Value | Count | Frequency (%) | |
| ASCII | 14 | 100.0% |
| Distinct count | 7339 |
|---|---|
| Unique (%) | 13.3% |
| Missing | 9955 |
| Missing (%) | 15.3% |
| Memory size | 509.4 KiB |
| 1 | 100 |
|---|---|
| 27 | 80 |
| 127 | 78 |
| 69 | 75 |
| 12 | 74 |
| Other values (7334) |
| Value | Count | Frequency (%) | |
| 1 | 100 | 0.2% | |
| 27 | 80 | 0.1% | |
| 127 | 78 | 0.1% | |
| 69 | 75 | 0.1% | |
| 12 | 74 | 0.1% | |
| 158 | 73 | 0.1% | |
| 11 | 72 | 0.1% | |
| 57 | 71 | 0.1% | |
| 155 | 71 | 0.1% | |
| 196 | 71 | 0.1% | |
| Other values (7329) | 54468 | 83.6% | |
| (Missing) | 9955 | 15.3% |
Length
| Max length | 11 |
|---|---|
| Mean length | 3.261919372 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 10 | 71.4% | |
| Lowercase_Letter | 2 | 14.3% | |
| Other_Punctuation | 1 | 7.1% | |
| Dash_Punctuation | 1 | 7.1% |
| Value | Count | Frequency (%) | |
| Common | 12 | 85.7% | |
| Latin | 2 | 14.3% |
| Value | Count | Frequency (%) | |
| ASCII | 14 | 100.0% |
| Distinct count | 1262 |
|---|---|
| Unique (%) | 2.3% |
| Missing | 10004 |
| Missing (%) | 15.3% |
| Memory size | 509.4 KiB |
| A | 2005 |
|---|---|
| L | 2003 |
| P | 1858 |
| S | 1710 |
| T | 1677 |
| Other values (1257) |
| Value | Count | Frequency (%) | |
| A | 2005 | 3.1% | |
| L | 2003 | 3.1% | |
| P | 1858 | 2.9% | |
| S | 1710 | 2.6% | |
| T | 1677 | 2.6% | |
| R/Q | 1421 | 2.2% | |
| R/H | 1350 | 2.1% | |
| G | 1121 | 1.7% | |
| R/C | 1118 | 1.7% | |
| A/T | 1042 | 1.6% | |
| Other values (1252) | 39879 | 61.2% | |
| (Missing) | 10004 | 15.3% |
Length
| Max length | 45 |
|---|---|
| Mean length | 2.494140026 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 21 | 80.8% | |
| Other_Punctuation | 2 | 7.7% | |
| Lowercase_Letter | 2 | 7.7% | |
| Dash_Punctuation | 1 | 3.8% |
| Value | Count | Frequency (%) | |
| Latin | 23 | 88.5% | |
| Common | 3 | 11.5% |
| Value | Count | Frequency (%) | |
| ASCII | 26 | 100.0% |
| Distinct count | 2220 |
|---|---|
| Unique (%) | 4.0% |
| Missing | 10004 |
| Missing (%) | 15.3% |
| Memory size | 509.4 KiB |
| cGg/cAg | 915 |
|---|---|
| Cgg/Tgg | 852 |
| cGc/cAc | 769 |
| Cga/Tga | 734 |
| Cgc/Tgc | 730 |
| Other values (2215) |
| Value | Count | Frequency (%) | |
| cGg/cAg | 915 | 1.4% | |
| Cgg/Tgg | 852 | 1.3% | |
| cGc/cAc | 769 | 1.2% | |
| Cga/Tga | 734 | 1.1% | |
| Cgc/Tgc | 730 | 1.1% | |
| gaC/gaT | 701 | 1.1% | |
| gcG/gcA | 681 | 1.0% | |
| Gtg/Atg | 680 | 1.0% | |
| ccG/ccA | 643 | 1.0% | |
| gcC/gcT | 614 | 0.9% | |
| Other values (2210) | 47865 | 73.4% | |
| (Missing) | 10004 | 15.3% |
Length
| Max length | 133 |
|---|---|
| Mean length | 6.490013499 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 5 | 45.5% | |
| Uppercase_Letter | 4 | 36.4% | |
| Other_Punctuation | 1 | 9.1% | |
| Dash_Punctuation | 1 | 9.1% |
| Value | Count | Frequency (%) | |
| Latin | 9 | 81.8% | |
| Common | 2 | 18.2% |
| Value | Count | Frequency (%) | |
| ASCII | 11 | 100.0% |
| Distinct count | 96 |
|---|---|
| Unique (%) | 88.9% |
| Missing | 65080 |
| Missing (%) | 99.8% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 825.7314815 |
|---|---|
| Minimum | 1 |
| Maximum | 4759 |
| Zeros | 0 |
| Zeros (%) | 0.0% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 1 |
|---|---|
| 5-th percentile | 5 |
| Q1 | 55.5 |
| median | 469 |
| Q3 | 1415 |
| 95-th percentile | 2272.2 |
| Maximum | 4759 |
| Range | 4758 |
| Interquartile range (IQR) | 1359.5 |
Descriptive statistics
| Standard deviation | 1069.363315 |
|---|---|
| Coefficient of variation (CV) | 1.295049709 |
| Kurtosis | 3.657808404 |
| Mean | 825.7314815 |
| Median Absolute Deviation (MAD) | 804.9283265 |
| Skewness | 1.87461385 |
| Sum | 89179 |
| Variance | 1143537.899 |
| Value | Count | Frequency (%) | |
| 28 | 3 | < 0.1% | |
| 30 | 2 | < 0.1% | |
| 11 | 2 | < 0.1% | |
| 5 | 2 | < 0.1% | |
| 13 | 2 | < 0.1% | |
| 551 | 2 | < 0.1% | |
| 87 | 2 | < 0.1% | |
| 466 | 2 | < 0.1% | |
| 56 | 2 | < 0.1% | |
| 3 | 2 | < 0.1% | |
| Other values (86) | 87 | 0.1% | |
| (Missing) | 65080 | 99.8% |
| Value | Count | Frequency (%) | |
| 1 | 2 | < 0.1% | |
| 3 | 2 | < 0.1% | |
| 4 | 1 | < 0.1% | |
| 5 | 2 | < 0.1% | |
| 10 | 1 | < 0.1% |
| Value | Count | Frequency (%) | |
| 4759 | 1 | < 0.1% | |
| 4402 | 1 | < 0.1% | |
| 4323 | 1 | < 0.1% | |
| 4296 | 1 | < 0.1% | |
| 4264 | 1 | < 0.1% |
| Distinct count | 2 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 14 |
| Missing (%) | < 0.1% |
| Memory size | 509.4 KiB |
| -1 | |
|---|---|
| 1 |
| Value | Count | Frequency (%) | |
| -1 | 32804 | 50.3% | |
| 1 | 32370 | 49.7% | |
| (Missing) | 14 | < 0.1% |
Length
| Max length | 4 |
|---|---|
| Mean length | 3.503221452 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 2 | 33.3% | |
| Lowercase_Letter | 2 | 33.3% | |
| Other_Punctuation | 1 | 16.7% | |
| Dash_Punctuation | 1 | 16.7% |
| Value | Count | Frequency (%) | |
| Common | 4 | 66.7% | |
| Latin | 2 | 33.3% |
| Value | Count | Frequency (%) | |
| ASCII | 6 | 100.0% |
| Distinct count | 2 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 33219 |
| Missing (%) | 51.0% |
| Memory size | 509.4 KiB |
| OK | |
|---|---|
| FAILED | 262 |
| Value | Count | Frequency (%) | |
| OK | 31707 | 48.6% | |
| FAILED | 262 | 0.4% | |
| (Missing) | 33219 | 51.0% |
Length
| Max length | 6 |
|---|---|
| Mean length | 2.525664233 |
| Min length | 2 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 8 | 80.0% | |
| Lowercase_Letter | 2 | 20.0% |
| Value | Count | Frequency (%) | |
| Latin | 10 | 100.0% |
| Value | Count | Frequency (%) | |
| ASCII | 10 | 100.0% |
| Distinct count | 4 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 40352 |
| Missing (%) | 61.9% |
| Memory size | 509.4 KiB |
| deleterious | |
|---|---|
| tolerated | |
| tolerated_low_confidence | 1077 |
| deleterious_low_confidence | 775 |
| Value | Count | Frequency (%) | |
| deleterious | 11500 | 17.6% | |
| tolerated | 11484 | 17.6% | |
| tolerated_low_confidence | 1077 | 1.7% | |
| deleterious_low_confidence | 775 | 1.2% | |
| (Missing) | 40352 | 61.9% |
Length
| Max length | 26 |
|---|---|
| Mean length | 6.088697306 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 14 | 93.3% | |
| Connector_Punctuation | 1 | 6.7% |
| Value | Count | Frequency (%) | |
| Latin | 14 | 93.3% | |
| Common | 1 | 6.7% |
| Value | Count | Frequency (%) | |
| ASCII | 15 | 100.0% |
| Distinct count | 4 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 40392 |
| Missing (%) | 62.0% |
| Memory size | 509.4 KiB |
| benign | |
|---|---|
| probably_damaging | |
| possibly_damaging | |
| unknown | 4 |
| Value | Count | Frequency (%) | |
| benign | 13329 | 20.4% | |
| probably_damaging | 7531 | 11.6% | |
| possibly_damaging | 3932 | 6.0% | |
| unknown | 4 | < 0.1% | |
| (Missing) | 40392 | 62.0% |
Length
| Max length | 17 |
|---|---|
| Mean length | 6.075489354 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 17 | 94.4% | |
| Connector_Punctuation | 1 | 5.6% |
| Value | Count | Frequency (%) | |
| Latin | 17 | 94.4% | |
| Common | 1 | 5.6% |
| Value | Count | Frequency (%) | |
| ASCII | 18 | 100.0% |
| Distinct count | 2 |
|---|---|
| Unique (%) | 100.0% |
| Missing | 65186 |
| Missing (%) | > 99.9% |
| Memory size | 509.4 KiB |
| Egr1:MA0341.1 | |
|---|---|
| FOXA1:MA0546.1 |
| Value | Count | Frequency (%) | |
| Egr1:MA0341.1 | 1 | < 0.1% | |
| FOXA1:MA0546.1 | 1 | < 0.1% | |
| (Missing) | 65186 | > 99.9% |
Length
| Max length | 14 |
|---|---|
| Mean length | 3.000322145 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 6 | 33.3% | |
| Uppercase_Letter | 6 | 33.3% | |
| Lowercase_Letter | 4 | 22.2% | |
| Other_Punctuation | 2 | 11.1% |
| Value | Count | Frequency (%) | |
| Latin | 10 | 55.6% | |
| Common | 8 | 44.4% |
| Value | Count | Frequency (%) | |
| ASCII | 18 | 100.0% |
| Distinct count | 1 |
|---|---|
| Unique (%) | 50.0% |
| Missing | 65186 |
| Missing (%) | > 99.9% |
| Memory size | 509.4 KiB |
| 1 | 2 |
|---|---|
| (Missing) |
| Value | Count | Frequency (%) | |
| 1 | 2 | < 0.1% | |
| (Missing) | 65186 | > 99.9% |
| Distinct count | 1 |
|---|---|
| Unique (%) | 50.0% |
| Missing | 65186 |
| Missing (%) | > 99.9% |
| Memory size | 509.4 KiB |
| N |
|---|
| Value | Count | Frequency (%) | |
| N | 2 | < 0.1% | |
| (Missing) | 65186 | > 99.9% |
Length
| Max length | 3 |
|---|---|
| Mean length | 2.999938639 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 2 | 66.7% | |
| Uppercase_Letter | 1 | 33.3% |
| Value | Count | Frequency (%) | |
| Latin | 3 | 100.0% |
| Value | Count | Frequency (%) | |
| ASCII | 3 | 100.0% |
| Distinct count | 2 |
|---|---|
| Unique (%) | 100.0% |
| Missing | 65186 |
| Missing (%) | > 99.9% |
| Memory size | 509.4 KiB |
| -0.063 | |
|---|---|
| -0.097 |
| Value | Count | Frequency (%) | |
| -0.063 | 1 | < 0.1% | |
| -0.097 | 1 | < 0.1% | |
| (Missing) | 65186 | > 99.9% |
Length
| Max length | 20 |
|---|---|
| Mean length | 3.000306805 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 4 | 50.0% | |
| Lowercase_Letter | 2 | 25.0% | |
| Other_Punctuation | 1 | 12.5% | |
| Dash_Punctuation | 1 | 12.5% |
| Value | Count | Frequency (%) | |
| Common | 6 | 75.0% | |
| Latin | 2 | 25.0% |
| Value | Count | Frequency (%) | |
| ASCII | 8 | 100.0% |
| Distinct count | 1195 |
|---|---|
| Unique (%) | 2.0% |
| Missing | 4213 |
| Missing (%) | 6.5% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 0.3450584315 |
|---|---|
| Minimum | 6.89e-05 |
| Maximum | 1 |
| Zeros | 0 |
| Zeros (%) | 0.0% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 6.89e-05 |
|---|---|
| 5-th percentile | 0.00145 |
| Q1 | 0.0243 |
| median | 0.157 |
| Q3 | 0.71 |
| 95-th percentile | 0.971 |
| Maximum | 1 |
| Range | 0.9999311 |
| Interquartile range (IQR) | 0.6857 |
Descriptive statistics
| Standard deviation | 0.3612384434 |
|---|---|
| Coefficient of variation (CV) | 1.046890644 |
| Kurtosis | -1.201434912 |
| Mean | 0.3450584315 |
| Median Absolute Deviation (MAD) | 0.3223397243 |
| Skewness | 0.6522583053 |
| Sum | 21039.93786 |
| Variance | 0.130493213 |
| Value | Count | Frequency (%) | |
| 0.971 | 2836 | 4.4% | |
| 0.0896 | 1953 | 3.0% | |
| 0.782 | 1909 | 2.9% | |
| 0.00386 | 1228 | 1.9% | |
| 0.0212 | 1094 | 1.7% | |
| 0.00207 | 1075 | 1.6% | |
| 0.116 | 1068 | 1.6% | |
| 0.0737 | 905 | 1.4% | |
| 0.965 | 798 | 1.2% | |
| 0.000276 | 640 | 1.0% | |
| Other values (1185) | 47469 | 72.8% | |
| (Missing) | 4213 | 6.5% |
| Value | Count | Frequency (%) | |
| 6.89e-05 | 60 | 0.1% | |
| 0.000138 | 162 | 0.2% | |
| 0.000207 | 118 | 0.2% | |
| 0.000276 | 640 | 1.0% | |
| 0.000344 | 197 | 0.3% |
| Value | Count | Frequency (%) | |
| 1 | 3 | < 0.1% | |
| 0.999 | 3 | < 0.1% | |
| 0.998 | 133 | 0.2% | |
| 0.997 | 45 | 0.1% | |
| 0.996 | 1 | < 0.1% |
| Distinct count | 9324 |
|---|---|
| Unique (%) | 14.5% |
| Missing | 1092 |
| Missing (%) | 1.7% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 15.68561648 |
|---|---|
| Minimum | 0.001 |
| Maximum | 99 |
| Zeros | 0 |
| Zeros (%) | 0.0% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 0.001 |
|---|---|
| 5-th percentile | 0.07 |
| Q1 | 7.141 |
| median | 14.09 |
| Q3 | 24.1 |
| 95-th percentile | 34 |
| Maximum | 99 |
| Range | 98.999 |
| Interquartile range (IQR) | 16.959 |
Descriptive statistics
| Standard deviation | 10.83635024 |
|---|---|
| Coefficient of variation (CV) | 0.690846308 |
| Kurtosis | -0.3988884313 |
| Mean | 15.68561648 |
| Median Absolute Deviation (MAD) | 9.19150042 |
| Skewness | 0.3787342923 |
| Sum | 1005385.274 |
| Variance | 117.4264864 |
| Value | Count | Frequency (%) | |
| 34 | 1431 | 2.2% | |
| 35 | 1263 | 1.9% | |
| 33 | 931 | 1.4% | |
| 32 | 828 | 1.3% | |
| 0.001 | 509 | 0.8% | |
| 0.002 | 469 | 0.7% | |
| 31 | 458 | 0.7% | |
| 23 | 427 | 0.7% | |
| 23.1 | 412 | 0.6% | |
| 23.2 | 405 | 0.6% | |
| Other values (9314) | 56963 | 87.4% | |
| (Missing) | 1092 | 1.7% |
| Value | Count | Frequency (%) | |
| 0.001 | 509 | 0.8% | |
| 0.002 | 469 | 0.7% | |
| 0.003 | 212 | 0.3% | |
| 0.004 | 144 | 0.2% | |
| 0.005 | 108 | 0.2% |
| Value | Count | Frequency (%) | |
| 99 | 1 | < 0.1% | |
| 81 | 1 | < 0.1% | |
| 79 | 1 | < 0.1% | |
| 74 | 1 | < 0.1% | |
| 73 | 1 | < 0.1% |
| Distinct count | 63803 |
|---|---|
| Unique (%) | 99.5% |
| Missing | 1092 |
| Missing (%) | 1.7% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 2.554131453 |
|---|---|
| Minimum | -5.477391 |
| Maximum | 46.556261 |
| Zeros | 0 |
| Zeros (%) | 0.0% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | -5.477391 |
|---|---|
| 5-th percentile | -0.70556925 |
| Q1 | 0.46295075 |
| median | 1.6429485 |
| Q3 | 4.38139175 |
| 95-th percentile | 7.45498775 |
| Maximum | 46.556261 |
| Range | 52.033652 |
| Interquartile range (IQR) | 3.918441 |
Descriptive statistics
| Standard deviation | 2.961553499 |
|---|---|
| Coefficient of variation (CV) | 1.159514909 |
| Kurtosis | 5.94858469 |
| Mean | 2.554131453 |
| Median Absolute Deviation (MAD) | 2.309544805 |
| Skewness | 1.609072348 |
| Sum | 163709.6096 |
| Variance | 8.770799128 |
| Value | Count | Frequency (%) | |
| 1.463563 | 3 | < 0.1% | |
| 5.456311 | 2 | < 0.1% | |
| 3.363536 | 2 | < 0.1% | |
| 1.344155 | 2 | < 0.1% | |
| -0.019198 | 2 | < 0.1% | |
| 2.534534 | 2 | < 0.1% | |
| 4.437403 | 2 | < 0.1% | |
| 0.753203 | 2 | < 0.1% | |
| 1.549289 | 2 | < 0.1% | |
| 6.273175 | 2 | < 0.1% | |
| Other values (63793) | 64075 | 98.3% | |
| (Missing) | 1092 | 1.7% |
| Value | Count | Frequency (%) | |
| -5.477391 | 1 | < 0.1% | |
| -4.682013 | 1 | < 0.1% | |
| -4.472198 | 1 | < 0.1% | |
| -4.450451 | 1 | < 0.1% | |
| -4.314148 | 1 | < 0.1% |
| Value | Count | Frequency (%) | |
| 46.556261 | 1 | < 0.1% | |
| 34.23672 | 1 | < 0.1% | |
| 33.935525 | 1 | < 0.1% | |
| 32.934203 | 1 | < 0.1% | |
| 32.693999 | 1 | < 0.1% |
| Distinct count | 6 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 39595 |
| Missing (%) | 60.7% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | -0.40225843 |
|---|---|
| Minimum | -3 |
| Maximum | 3 |
| Zeros | 0 |
| Zeros (%) | 0.0% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | -3 |
|---|---|
| 5-th percentile | -3 |
| Q1 | -2 |
| median | -1 |
| Q3 | 1 |
| 95-th percentile | 3 |
| Maximum | 3 |
| Range | 6 |
| Interquartile range (IQR) | 3 |
Descriptive statistics
| Standard deviation | 1.872684039 |
|---|---|
| Coefficient of variation (CV) | -4.655425216 |
| Kurtosis | -1.231940545 |
| Mean | -0.40225843 |
| Median Absolute Deviation (MAD) | 1.689507893 |
| Skewness | 0.1193541477 |
| Sum | -10295 |
| Variance | 3.506945509 |
| Value | Count | Frequency (%) | |
| 1 | 7696 | 11.8% | |
| -1 | 5336 | 8.2% | |
| -3 | 4450 | 6.8% | |
| -2 | 4300 | 6.6% | |
| 2 | 2138 | 3.3% | |
| 3 | 1673 | 2.6% | |
| (Missing) | 39595 | 60.7% |
| Value | Count | Frequency (%) | |
| -3 | 4450 | 6.8% | |
| -2 | 4300 | 6.6% | |
| -1 | 5336 | 8.2% | |
| 1 | 7696 | 11.8% | |
| 2 | 2138 | 3.3% |
| Value | Count | Frequency (%) | |
| 3 | 1673 | 2.6% | |
| 2 | 2138 | 3.3% | |
| 1 | 7696 | 11.8% | |
| -1 | 5336 | 8.2% | |
| -2 | 4300 | 6.6% |
Pearson's r
The Pearson's correlation coefficient (r) is a measure of linear correlation between two variables. It's value lies between -1 and +1, -1 indicating total negative linear correlation, 0 indicating no linear correlation and 1 indicating total positive linear correlation. Furthermore, r is invariant under separate changes in location and scale of the two variables, implying that for a linear function the angle to the x-axis does not affect r.To calculate r for two variables X and Y, one divides the covariance of X and Y by the product of their standard deviations.
Spearman's ρ
The Spearman's rank correlation coefficient (ρ) is a measure of monotonic correlation between two variables, and is therefore better in catching nonlinear monotonic correlations than Pearson's r. It's value lies between -1 and +1, -1 indicating total negative monotonic correlation, 0 indicating no monotonic correlation and 1 indicating total positive monotonic correlation.To calculate ρ for two variables X and Y, one divides the covariance of the rank variables of X and Y by the product of their standard deviations.
Kendall's τ
Similarly to Spearman's rank correlation coefficient, the Kendall rank correlation coefficient (τ) measures ordinal association between two variables. It's value lies between -1 and +1, -1 indicating total negative correlation, 0 indicating no correlation and 1 indicating total positive correlation.To calculate τ for two variables X and Y, one determines the number of concordant and discordant pairs of observations. τ is given by the number of concordant pairs minus the discordant pairs divided by the total number of pairs.
First rows
| CHROM | POS | REF | ALT | AF_ESP | AF_EXAC | AF_TGP | CLNDISDB | CLNDISDBINCL | CLNDN | CLNDNINCL | CLNHGVS | CLNSIGINCL | CLNVC | CLNVI | MC | ORIGIN | SSR | CLASS | Allele | Consequence | IMPACT | SYMBOL | Feature_type | Feature | BIOTYPE | EXON | INTRON | cDNA_position | CDS_position | Protein_position | Amino_acids | Codons | DISTANCE | STRAND | BAM_EDIT | SIFT | PolyPhen | MOTIF_NAME | MOTIF_POS | HIGH_INF_POS | MOTIF_SCORE_CHANGE | LoFtool | CADD_PHRED | CADD_RAW | BLOSUM62 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0 | 1 | 1168180 | G | C | 0.0771 | 0.10020 | 0.1066 | MedGen:CN169374 | NaN | not_specified | NaN | NC_000001.10:g.1168180G>C | NaN | single_nucleotide_variant | UniProtKB_(protein):Q96L58#VAR_059317 | SO:0001583|missense_variant | 1 | NaN | 0 | C | missense_variant | MODERATE | B3GALT6 | Transcript | NM_080605.3 | protein_coding | 1/1 | NaN | 552 | 522 | 174 | E/D | gaG/gaC | NaN | 1.0 | NaN | tolerated | benign | NaN | NaN | NaN | NaN | NaN | 1.053 | -0.208682 | 2.0 |
| 1 | 1 | 1470752 | G | A | 0.0000 | 0.00000 | 0.0000 | MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773|MedGen:CN517202 | NaN | Spinocerebellar_ataxia_21|not_provided | NaN | NC_000001.10:g.1470752G>A | NaN | single_nucleotide_variant | OMIM_Allelic_Variant:616101.0001|UniProtKB_(protein):Q5SV17#VAR_071909 | SO:0001583|missense_variant | 1 | NaN | 0 | A | missense_variant | MODERATE | TMEM240 | Transcript | NM_001114748.1 | protein_coding | 4/4 | NaN | 523 | 509 | 170 | P/L | cCg/cTg | NaN | -1.0 | OK | deleterious_low_confidence | benign | NaN | NaN | NaN | NaN | NaN | 31.000 | 6.517838 | -3.0 |
| 2 | 1 | 1737942 | A | G | 0.0000 | 0.00001 | 0.0000 | Human_Phenotype_Ontology:HP:0000486,MedGen:C0038379|Human_Phenotype_Ontology:HP:0000639,MedGen:C0028738|Human_Phenotype_Ontology:HP:0000821,MedGen:C0020676,Orphanet:ORPHA181396|Human_Phenotype_Ontology:HP:0001249,MedGen:C1843367|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0001263,MedGen:C4020875|Human_Phenotype_Ontology:HP:0001508,MedGen:C0231246|Human_Phenotype_Ontology:HP:0001510,MedGen:C3552463|Human_Phenotype_Ontology:HP:0002376,MedGen:C1855009|Human_Phenotype_Ontology:HP:0002474,MedGen:C1847610|Human_Phenotype_Ontology:HP:0002509,MedGen:C1838391|Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046|Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604|Human_Phenotype_Ontology:HP:0010841,MedGen:C4021219|Human_Phenotype_Ontology:HP:0011198,MedGen:C4023476|Human_Phenotype_Ontology:HP:0200049,MedGen:C4021898|MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688|MeSH:D030342,MedGen:C0950123|MedGen:C0008925,Orphanet:ORPHA2014|MedGen:C0393593,Orphanet:ORPHA68363|MedGen:C4310774,OMIM:616973|MedGen:CN517202 | NaN | Strabismus|Nystagmus|Hypothyroidism|Intellectual_disability|Seizures|Muscular_hypotonia|Global_developmental_delay|Failure_to_thrive|Growth_delay|Developmental_regression|Expressive_language_delay|Limb_hypertonia|Inability_to_walk|Infantile_axial_hypotonia|Multifocal_epileptiform_discharges|EEG_with_generalized_epileptiform_discharges|Upper_limb_hypertonia|Myelodysplastic_syndrome|Inborn_genetic_diseases|Cleft_palate|Dystonia|Mental_retardation,_autosomal_dominant_42|not_provided | NaN | NC_000001.10:g.1737942A>G | NaN | single_nucleotide_variant | OMIM_Allelic_Variant:139380.0002|UniProtKB_(protein):P62873#VAR_076648 | SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant | 35 | NaN | 1 | G | missense_variant | MODERATE | GNB1 | Transcript | NM_002074.4 | protein_coding | 6/12 | NaN | 632 | 239 | 80 | I/T | aTc/aCc | NaN | -1.0 | OK | deleterious | probably_damaging | NaN | NaN | NaN | NaN | NaN | 28.100 | 6.061752 | -1.0 |
| 3 | 1 | 2160305 | G | A | 0.0000 | 0.00000 | 0.0000 | MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN517202 | NaN | Shprintzen-Goldberg_syndrome|not_provided | NaN | NC_000001.10:g.2160305G>A | NaN | single_nucleotide_variant | OMIM_Allelic_Variant:164780.0004|UniProtKB_(protein):P12755#VAR_071176 | SO:0001583|missense_variant | 33 | NaN | 0 | A | missense_variant | MODERATE | SKI | Transcript | XM_005244775.1 | protein_coding | 1/7 | NaN | 132 | 100 | 34 | G/S | Ggc/Agc | NaN | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 22.500 | 3.114491 | NaN |
| 4 | 1 | 2160305 | G | T | 0.0000 | 0.00000 | 0.0000 | MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002 | NaN | Shprintzen-Goldberg_syndrome | NaN | NC_000001.10:g.2160305G>T | NaN | single_nucleotide_variant | OMIM_Allelic_Variant:164780.0005|UniProtKB_(protein):P12755#VAR_071174 | SO:0001583|missense_variant | 33 | NaN | 0 | T | missense_variant | MODERATE | SKI | Transcript | XM_005244775.1 | protein_coding | 1/7 | NaN | 132 | 100 | 34 | G/C | Ggc/Tgc | NaN | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 24.700 | 4.766224 | -3.0 |
| 5 | 1 | 2160554 | G | C | 0.0000 | 0.00000 | 0.0000 | MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002|MedGen:CN517202 | NaN | Shprintzen-Goldberg_syndrome|not_provided | NaN | NC_000001.10:g.2160554G>C | NaN | single_nucleotide_variant | UniProtKB_(protein):P12755#VAR_071183 | SO:0001583|missense_variant | 33 | NaN | 0 | C | missense_variant | MODERATE | SKI | Transcript | XM_005244775.1 | protein_coding | 1/7 | NaN | 381 | 349 | 117 | G/R | Ggc/Cgc | NaN | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 23.700 | 4.079099 | -2.0 |
| 6 | 1 | 3328358 | T | C | 0.0000 | 0.00000 | 0.0000 | MedGen:CN169374 | NaN | not_specified | NaN | NC_000001.10:g.3328358T>C | NaN | single_nucleotide_variant | UniProtKB_(protein):Q9HAZ2#VAR_031433 | SO:0001583|missense_variant | 1 | NaN | 0 | C | missense_variant | MODERATE | PRDM16 | Transcript | XM_005244772.1 | protein_coding | 9/17 | NaN | 1858 | 1600 | 534 | S/P | Tcg/Ccg | NaN | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 0.101 | 0.172 | -0.543433 | -1.0 |
| 7 | 1 | 3328659 | C | T | 0.1523 | 0.13103 | 0.1060 | MedGen:CN169374 | NaN | not_specified | NaN | NC_000001.10:g.3328659C>T | NaN | single_nucleotide_variant | UniProtKB_(protein):Q9HAZ2#VAR_031434 | SO:0001583|missense_variant | 1 | NaN | 0 | T | missense_variant | MODERATE | PRDM16 | Transcript | XM_005244772.1 | protein_coding | 9/17 | NaN | 2159 | 1901 | 634 | P/L | cCt/cTt | NaN | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 0.101 | 23.000 | 3.424422 | -3.0 |
| 8 | 1 | 3347452 | G | A | 0.0000 | 0.00357 | 0.0030 | MedGen:C3809288,OMIM:615373|MedGen:CN169374|MedGen:CN178850 | NaN | Left_ventricular_noncompaction_8|not_specified|Dilated_cardiomyopathy_1LL | NaN | NC_000001.10:g.3347452G>A | NaN | single_nucleotide_variant | OMIM_Allelic_Variant:605557.0004|UniProtKB_(protein):Q9HAZ2#VAR_070216 | SO:0001583|missense_variant | 1 | NaN | 1 | A | missense_variant | MODERATE | PRDM16 | Transcript | XM_005244772.1 | protein_coding | 15/17 | NaN | 3562 | 3304 | 1102 | V/M | Gtg/Atg | NaN | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 0.101 | 11.360 | 1.126629 | 1.0 |
| 9 | 1 | 5925304 | G | A | 0.0045 | 0.00231 | 0.0058 | MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN169374 | NaN | Nephronophthisis|not_specified | NaN | NC_000001.10:g.5925304G>A | NaN | single_nucleotide_variant | UniProtKB_(protein):O75161#VAR_022546 | SO:0001583|missense_variant | 1 | NaN | 0 | A | missense_variant | MODERATE | NPHP4 | Transcript | NM_015102.3 | protein_coding | 27/30 | NaN | 3942 | 3674 | 1225 | T/M | aCg/aTg | NaN | -1.0 | NaN | deleterious | benign | NaN | NaN | NaN | NaN | 0.021 | 22.100 | 2.969650 | -1.0 |
Last rows
| CHROM | POS | REF | ALT | AF_ESP | AF_EXAC | AF_TGP | CLNDISDB | CLNDISDBINCL | CLNDN | CLNDNINCL | CLNHGVS | CLNSIGINCL | CLNVC | CLNVI | MC | ORIGIN | SSR | CLASS | Allele | Consequence | IMPACT | SYMBOL | Feature_type | Feature | BIOTYPE | EXON | INTRON | cDNA_position | CDS_position | Protein_position | Amino_acids | Codons | DISTANCE | STRAND | BAM_EDIT | SIFT | PolyPhen | MOTIF_NAME | MOTIF_POS | HIGH_INF_POS | MOTIF_SCORE_CHANGE | LoFtool | CADD_PHRED | CADD_RAW | BLOSUM62 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 65178 | X | 154005088 | C | CAAG | 0.0000 | 0.00000 | 0.0000 | MedGen:C0265965,Orphanet:ORPHA1775,SNOMED_CT:74911008|MedGen:CN169374 | NaN | Dyskeratosis_congenita|not_specified | NaN | NC_000023.10:g.154005109_154005111dupGAA | NaN | Duplication | NaN | NaN | 1 | NaN | 0 | AAG | inframe_insertion | MODERATE | DKC1 | Transcript | NM_001363.3 | protein_coding | 15/15 | NaN | 1701-1702 | 1491-1492 | 497-498 | -/K | -/AAG | NaN | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 14.500 | 1.716666 | NaN |
| 65179 | X | 154005088 | CAAG | C | 0.0000 | 0.00000 | 0.0000 | MedGen:C0265965,Orphanet:ORPHA1775,SNOMED_CT:74911008|MedGen:CN169374 | NaN | Dyskeratosis_congenita|not_specified | NaN | NC_000023.10:g.154005109_154005111delGAA | NaN | Deletion | NaN | SO:0001624|3_prime_UTR_variant | 1 | NaN | 1 | - | inframe_deletion | MODERATE | DKC1 | Transcript | NM_001363.3 | protein_coding | 15/15 | NaN | 1702-1704 | 1492-1494 | 498 | K/- | AAG/- | NaN | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 16.300 | 2.014044 | NaN |
| 65180 | X | 154005148 | G | A | 0.0708 | 0.17233 | 0.1383 | MedGen:CN169374 | NaN | not_specified | NaN | NC_000023.10:g.154005148G>A | NaN | single_nucleotide_variant | NaN | SO:0001624|3_prime_UTR_variant | 1 | NaN | 0 | A | 3_prime_UTR_variant | MODIFIER | DKC1 | Transcript | NM_001363.3 | protein_coding | 15/15 | NaN | 1761 | NaN | NaN | NaN | NaN | NaN | 1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 6.255 | 0.359695 | NaN |
| 65181 | X | 154065843 | G | A | 0.0159 | 0.00689 | 0.0127 | MedGen:CN169374|MedGen:CN239152 | NaN | not_specified|Hemophilia_A,_FVIII_Deficiency | NaN | NC_000023.10:g.154065843G>A | NaN | single_nucleotide_variant | Illumina_Clinical_Services_Laboratory,Illumina:746215 | SO:0001624|3_prime_UTR_variant | 1 | NaN | 0 | A | 3_prime_UTR_variant | MODIFIER | F8 | Transcript | NM_000132.3 | protein_coding | 26/26 | NaN | 7256 | NaN | NaN | NaN | NaN | NaN | -1.0 | OK | NaN | NaN | NaN | NaN | NaN | NaN | 0.00158 | 3.007 | 0.042639 | NaN |
| 65182 | X | 154157565 | C | T | 0.0153 | 0.00473 | 0.0140 | MedGen:CN169374|MedGen:CN239152 | NaN | not_specified|Hemophilia_A,_FVIII_Deficiency | NaN | NC_000023.10:g.154157565C>T | NaN | single_nucleotide_variant | Illumina_Clinical_Services_Laboratory,Illumina:741100 | SO:0001819|synonymous_variant | 1 | NaN | 0 | T | synonymous_variant | LOW | F8 | Transcript | NM_000132.3 | protein_coding | 14/26 | NaN | 4671 | 4500 | 1500 | P | ccG/ccA | NaN | -1.0 | OK | NaN | NaN | NaN | NaN | NaN | NaN | 0.00158 | 11.440 | 1.142527 | NaN |
| 65183 | X | 154158201 | T | G | 0.0801 | 0.13923 | 0.1605 | MedGen:C0019069,OMIM:306700,SNOMED_CT:28293008|MedGen:CN169374|MedGen:CN239152 | NaN | Hereditary_factor_VIII_deficiency_disease|not_specified|Hemophilia_A,_FVIII_Deficiency | NaN | NC_000023.10:g.154158201T>G | NaN | single_nucleotide_variant | ARUP_Laboratories,_Molecular_Genetics_and_Genomics:107962|Illumina_Clinical_Services_Laboratory,Illumina:564263 | SO:0001819|synonymous_variant | 1 | NaN | 0 | G | synonymous_variant | LOW | F8 | Transcript | NM_000132.3 | protein_coding | 14/26 | NaN | 4035 | 3864 | 1288 | S | tcA/tcC | NaN | -1.0 | OK | NaN | NaN | NaN | NaN | NaN | NaN | 0.00158 | 0.105 | -0.630908 | NaN |
| 65184 | X | 154159118 | C | T | 0.0020 | 0.00060 | 0.0013 | MedGen:CN169374|MedGen:CN239152 | NaN | not_specified|Hemophilia_A,_FVIII_Deficiency | NaN | NC_000023.10:g.154159118C>T | NaN | single_nucleotide_variant | ARUP_Laboratories,_Molecular_Genetics_and_Genomics:149220|Illumina_Clinical_Services_Laboratory,Illumina:582677 | SO:0001583|missense_variant | 1 | NaN | 1 | T | missense_variant | MODERATE | F8 | Transcript | NM_000132.3 | protein_coding | 14/26 | NaN | 3118 | 2947 | 983 | V/I | Gta/Ata | NaN | -1.0 | OK | tolerated | benign | NaN | NaN | NaN | NaN | 0.00158 | 0.002 | -1.731470 | 3.0 |
| 65185 | X | 154194886 | C | T | 0.0125 | 0.00370 | 0.0111 | MedGen:CN169374|MedGen:CN239152 | NaN | not_specified|Hemophilia_A,_FVIII_Deficiency | NaN | NC_000023.10:g.154194886C>T | NaN | single_nucleotide_variant | ARUP_Laboratories,_Molecular_Genetics_and_Genomics:153352|Illumina_Clinical_Services_Laboratory,Illumina:746218 | SO:0001819|synonymous_variant | 1 | NaN | 0 | T | synonymous_variant | LOW | F8 | Transcript | NM_000132.3 | protein_coding | 8/26 | NaN | 1257 | 1086 | 362 | A | gcG/gcA | NaN | -1.0 | OK | NaN | NaN | NaN | NaN | NaN | NaN | 0.00158 | 12.850 | 1.412434 | NaN |
| 65186 | X | 154490187 | T | C | 0.0003 | 0.00034 | 0.0000 | MedGen:C3501611,Orphanet:ORPHA777|MedGen:CN169374 | NaN | Non-syndromic_X-linked_intellectual_disability|not_specified | NaN | NC_000023.10:g.154490187T>C | NaN | single_nucleotide_variant | Illumina_Clinical_Services_Laboratory,Illumina:628413 | SO:0001819|synonymous_variant | 1 | NaN | 0 | C | synonymous_variant | LOW | RAB39B | Transcript | NM_171998.2 | protein_coding | 2/2 | NaN | 822 | 543 | 181 | T | acA/acG | NaN | -1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 0.130 | -0.592415 | NaN |
| 65187 | X | 154508542 | G | C | 0.0019 | 0.00267 | 0.0008 | MedGen:CN169374|MedGen:CN517202 | NaN | not_specified|not_provided | NaN | NC_000023.10:g.154508542G>C | NaN | single_nucleotide_variant | NaN | SO:0001583|missense_variant | 1 | NaN | 0 | C | missense_variant | MODERATE | CLIC2 | Transcript | XM_005274646.1 | protein_coding | 6/7 | NaN | 791 | 532 | 178 | P/A | Cca/Gca | NaN | -1.0 | NaN | NaN | NaN | NaN | NaN | NaN | NaN | 0.14000 | 0.046 | -0.786513 | -1.0 |